Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations.
CCUS
Meacham syndrome
clonal cytopenias of undetermined significance
germline WT1 mutation
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
01 Dec 2021
01 Dec 2021
Historique:
pubmed:
1
6
2021
medline:
15
12
2021
entrez:
31
5
2021
Statut:
ppublish
Résumé
Congenital mutations of the Wilms' tumor 1 (WT1) gene can lead to various abnormalities, including renal/gonadal developmental disorders and cardiac malformations. Although there have been many reports of somatic WT1 mutations in patients with acute myeloid leukemia and myelodysplastic syndrome, congenital WT1 mutations have not been reported in hematological disorders. We herein report a patient with early-onset clonal cytopenia of undetermined significance that was associated with a congenital mutation of WT1 and an acquired mutation of DNMT3A [encoding DNA (cytosine-5)-methyltransferase 3A].
Identifiants
pubmed: 34053991
doi: 10.2169/internalmedicine.7571-21
pmc: PMC8710374
doi:
Substances chimiques
DNMT3A protein, human
0
WT1 Proteins
0
DNA Methyltransferase 3A
EC 2.1.1.37
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3785-3788Références
Mol Cell. 2015 Feb 19;57(4):662-673
pubmed: 25601757
Cardiol Young. 2020 May;30(5):641-648
pubmed: 32248856
Cell Rep. 2014 Dec 11;9(5):1841-1855
pubmed: 25482556
J Clin Invest. 2017 Oct 2;127(10):3657-3674
pubmed: 28872462
Hum Mol Genet. 2013 Jan 1;22(1):74-83
pubmed: 23042785
FASEB J. 2008 Aug;22(8):2690-701
pubmed: 18424770
Blood. 2015 Nov 19;126(21):2355-61
pubmed: 26429975
Blood. 2018 Sep 20;132(12):1265-1278
pubmed: 30064973
J Cardiol. 2016 Sep;68(3):181-9
pubmed: 27134136
Blood. 2019 Mar 7;133(10):1049-1059
pubmed: 30670442
Blood. 2010 Jun 24;115(25):5222-31
pubmed: 20368469
Am J Hematol. 2016 Dec;91(12):1234-1238
pubmed: 27717004
N Engl J Med. 2014 Dec 25;371(26):2488-98
pubmed: 25426837
Nature. 2020 Oct;586(7831):763-768
pubmed: 33057201
Development. 2017 Aug 15;144(16):2862-2872
pubmed: 28811308
Am J Hum Genet. 1998 Apr;62(4):824-33
pubmed: 9529364
N Engl J Med. 2016 Jun 9;374(23):2209-2221
pubmed: 27276561
Cell Stem Cell. 2018 Feb 1;22(2):157-170
pubmed: 29395053
Blood. 2017 Aug 10;130(6):753-762
pubmed: 28655780
EMBO J. 2001 Apr 17;20(8):1897-909
pubmed: 11296223